怀化市新生儿地中海贫血基因特征分析
Genetic characteristics of newborn thalassemia in Huaihua
谷真香 1冯宗辉 1肖刚1
作者信息
- 1. 怀化市妇幼保健院医学遗传科,湖南怀化 418000
- 折叠
摘要
目的 了解怀化市 2020-2022 年新生儿地中海贫血基因分型.方法 对 2020 年 1 月至 2022 年 12 月怀化市进行地中海贫血筛查的 46 931 名新生儿进行回顾性分析.结果 初筛阳性 4443 例,召回 2153 例,地中海贫血基因确诊 1536 例.基因确诊α地中海贫血 1077 例(70.12%),β地中海贫血 431 例(28.06%),中间型α地中海贫血 4 例;临床表型以静止型α地中海贫血、轻型α地中海贫血和轻型β地中海贫血为主.结论 怀化市新生儿地中海贫血以α地中海贫血为主,其中又以静止型、轻型多见.怀化市新生儿地中海贫血基因携带率高于全国平均水平,地区分布不均,地中海贫血防治工作形势较严峻.
Abstract
Objective To understand the genotypes of neonatal thalassemia in Huaihua City from 2020 to 2022.Methods A retrospective analysis was performed on 46 931 newborns screened for thalassemia from January 2020 to December 2022 in Huaihua City.Results 4443 cases were positive in preliminary screening,2153 cases were recalled,and 1536 cases were confirmed with thalassemia gene.There were 1077 cases(70.12%)of α-thalassemia diagnosed by gene.431(28.06%)cases of β-thalassemia;Intermediate α-thalassemia(4 cases);The clinical phenotypes were mainly static α-thalassemia,mild α-thalassemia and mild β-thalassemia.Conclusion The neonatal thalassemi in huaihua city is mainly α-thalassemia,and the rest type and mild type are more common.The gene carrying rate of newborn thalassemia in Huaihua City is higher than the national average level,the regional distribution is uneven,and the situation of thalassemia prevention and control is serious.
关键词
地中海贫血/筛查/基因/新生儿Key words
Thalassemia/Screening/Gene/Newborn引用本文复制引用
出版年
2024
国家科技期刊平台
NSTL
万方数据